Canonical Allele Identifier: CA384540966

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48371888T>G (hg19) ; chr12:g.47978105T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978105T>G , CM000674.2:g.47978105T>G	GRCh38
NC_000012.11:g.48371888T>G , CM000674.1:g.48371888T>G	GRCh37
NC_000012.10:g.46658155T>G	NCBI36
NG_008072.1:g.31398A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2809A>C	ENSP00000338213.6:p.Lys937Gln
ENST00000380518.8:c.3016A>C MANE Select	ENSP00000369889.3:p.Lys1006Gln
ENST00000337299.6:c.2809A>C	ENSP00000338213.6:p.Lys937Gln
ENST00000380518.7:c.3016A>C	ENSP00000369889.3:p.Lys1006Gln
ENST00000493991.5:n.2102A>C
NM_001844.4:c.3016A>C	NP_001835.3:p.Lys1006Gln
NM_033150.2:c.2809A>C	NP_149162.2:p.Lys937Gln
XM_006719242.2:c.3160A>C	XP_006719305.2:p.Lys1054Gln
XM_011537928.1:c.3160A>C	XP_011536230.1:p.Lys1054Gln
XM_011537929.1:c.3160A>C	XP_011536231.1:p.Lys1054Gln
XM_011537930.1:c.3160A>C	XP_011536232.1:p.Lys1054Gln
XM_011537931.1:c.3160A>C	XP_011536233.1:p.Lys1054Gln
XM_011537932.1:c.3160A>C	XP_011536234.1:p.Lys1054Gln
XM_011537933.1:c.3160A>C	XP_011536235.1:p.Lys1054Gln
XM_011537934.1:c.3157A>C	XP_011536236.1:p.Lys1053Gln
XM_011537935.1:c.2104A>C	XP_011536237.1:p.Lys702Gln
XM_017018828.1:c.3160A>C	XP_016874317.1:p.Lys1054Gln
XM_017018829.1:c.3157A>C	XP_016874318.1:p.Lys1053Gln
XM_017018830.1:c.2950A>C	XP_016874319.1:p.Lys984Gln
XM_017018831.2:c.2470A>C	XP_016874320.1:p.Lys824Gln
NM_001844.5:c.3016A>C MANE Select	NP_001835.3:p.Lys1006Gln
NM_033150.3:c.2809A>C	NP_149162.2:p.Lys937Gln